ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.905del (p.Asn302fs)

dbSNP: rs771156053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409422 SCV000486330 likely pathogenic Salla disease 2016-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409422 SCV003012923 pathogenic Salla disease 2022-12-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 370901). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. This variant is present in population databases (rs771156053, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Asn302Thrfs*8) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001).
Baylor Genetics RCV000409422 SCV004201210 likely pathogenic Salla disease 2023-10-18 criteria provided, single submitter clinical testing

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